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PubMed2004

Genetic testing in neuromuscular disease.

With the completion of the human genome, the availability of genetic testing is becoming widespread at a rapid pace. Testing for rare neurologic conditions often is possible. With the availability of this testing, it becomes necessary for the physician to be able to determine the potential benefits of testing and when and what testing is warranted. Understanding testing methods,interpreting complex results, and dealing with the ethical, social,and personal issues that arise for patients and families is critical for their care.

DNA Mutational Analysis↗
PubMed1999

Genetic testing for patients with renal disease: procedures, pitfalls, and ethical considerations.

The Human Genome Project is rapidly producing insights into the molecular basis of human genetic disorders. The most immediate clinical benefit is the advent of new diagnostic methods. Molecular diagnostic tools are available for several genetic renal disorders and are in development for many more. Two general approaches to molecular diagnosis are linkage-based testing and direct mutation detection. The former is used when the gene has not been cloned but has been mapped in relation to polymorphic loci. Linkage-based testing is also helpful when a large diversity of mutations makes direct detection difficult. Limitations include the need to study multiple family members, the need for informative polymorphisms, and genetic heterogeneity. Direct mutation detection is limited by genetic heterogeneity and the need to distinguish nonpathogenic allelic variants from pathogenic mutations. Molecular testing raises a number of complex ethical issues, including those associated with prenatal or presymptomatic diagnosis. In addition, there are concerns about informed consent, privacy, genetic discrimination, and technology transfer for newly developed tests. Health professionals need to be aware of the technical and ethical implications of these new methods of testing, as well as the complexities in test interpretation, as molecular approaches are increasingly integrated into medical practice.

Ethics, Medical↗
PubMed1998

Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community.

Helix (healthlinks.washington.edu/helix) is a web accessible database that serves as the main U.S. directory of laboratories offering genetic testing. The database was designed to address the previously unmet need for a centralized, continuously updated source of information about clinical and research genetic testing to keep pace with the rapid rate of gene discovery resulting from the Human Genome Project. The Helix project began in 1992 at the University of Washington and Children's Hospital and Regional Medical Center. It has evolved from a single user stand alone relational database to a fully Web enabled database queried and maintained via the web and linked to other web accessible genomic databases. As of February, 1998 it lists more than 500 diseases and 290 laboratories, with over 5,200 registered users making approximately 250 queries/day (90% via the Internet). We describe the iterative design, implementation, population and assessment of the database over a six year period.

Database Management Systems↗
PubMed2002

Guidelines for the appropriate use of genetic tests in infertile couples.

Research on genetic causes of male and female infertility rapidly expanded in the last years, following the development of in vitro fertilising techniques. Genetic tests are now available to explore the cause of the infertility and assess the risk of a given couple to transmit its genetic characteristics. This allows at-risk couples to take an informed decision when electing for a medically assisted reproduction. It also allows the professionals to offer a prenatal diagnosis when appropriate. Thus, the genetic work-up of the infertile couple has become good practice for an appropriate diagnosis, treatment and prognostic assessment. The lack of national or international rules for the genetic approach to the infertile couple, prompted the Italian community of professionals in the field of reproductive medicine to join and set up guidelines for the genetic diagnosis of male and female infertility. The group of clinical and research experts is representative of 12 national scientific societies and was supported by external experts from four international societies. We examine the clinically relevant genetic causes of male and female infertility and suggest the category of patients for which each genetic test is recommended or optional, both for an accurate diagnosis and prior to ART.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1996

The effects of ethnicity, education and an informational video on pregnant women's knowledge and decisions about a prenatal diagnostic screening test.

Prenatal screening for genetic disease and developmental disabilities is rapidly becoming a routine part of the management of low-risk pregnancies. Yet research on how to best inform pregnant women about these tests and their special ethical entailments remains sparse. We asked 130 low-risk pregnant women of diverse ethnic and social class backgrounds a series of questions about a prenatal test they had been offered within the previous 3 months. All had been given an informational booklet about the test at the time it was offered; about half also saw a video. We found that neither group of women retained much of the information they had received about the prenatal screening but that those who saw the video remembered more. Information-retention also varied significantly by ethnicity and level of education.

Adolescent↗
PubMed1999

Radiocontrast interference in screening tests for genetic-metabolic diseases.

Screening tests for genetic metabolic diseases remain extremely useful due to their rapidity, ease of interpretation and substantial reduction of cost. However, interferences in these tests are still a source of concern in laboratory medicine. Cost considerations have so compressed the duration of the medical work-up that the administration of radiologic contrast may often antedate the collection of body fluids for genetic-metabolic testing. It has been found that under these circumstances, certain contrast media may interfere with the urinary studies of amino acids, organic acids, and tests involving ultraviolet absorption such as those concerned with purines, pyrimidines, and related compounds. The consequences of interference may be misdiagnosis, repeated testing, extensive and expensive work-ups, and unnecessary delay and anxiety for the family. As in all testing, it is prudent to avoid medications and atypical diets, if possible. In the case of contrast media, it is a simple matter to collect samples for analysis prior to the administration of radiocontrast so as to avoid the pitfalls and yet not delay the diagnostic work-up.

Artifacts↗
PubMed1992

Future use and development of prenatal diagnosis. Consumers' attitudes.

The rapid progress of prenatal diagnosis and genetic tests makes it important to investigate attitudes towards this development. A total of 40 women and 20 men with personal experience of prenatal diagnosis for chromosome aberrations were interviewed about their moral opinion of the development. The majority (88 per cent) considered it certain or probable that all new methods developed will also be used in the future. The majority (62 per cent) were hesitant about testing for common disorders, e.g., diabetes mellitus and rheumatoid arthritis, but regarded it justified in some situations. One-third of the individuals (31 per cent) wanted some kind of restrictions for the use of the tests, but only 13 per cent recommended legislation for this purpose. The majority (84 per cent) believed that ethical principles are influenced by scientific progress. In most aspects, the women and their partners had similar attitudes. However, 82 per cent of the women but only 20 per cent of the men considered that the couple itself should decide about prenatal diagnosis. The results demonstrated a considerable respect regarding the difficult choices associated with the development of prenatal diagnosis, also among those who have decided favour of the test. The study indicated a greater need for autonomy among women than among men.

Adult↗
PubMed1982

Relative colonizing abilities of human fecal and K 12 strains of Escherichia coli in the large intestines of streptomycin-treated mice.

Male CD-1 mice, fed streptomycin in their drinking water, were used to study colonization of the mouse intestine by both fecal Escherichia coli strains isolated from healthy humans and Escherichia coli K12 strains which are routinely used as hosts for recombinant DNA. Prior to use in mice, all the strains were made resistant to streptomycin. Several facts emerged from these studies: (a) Strains isolated from different healthy humans colonized the mouse intestine with equal ability (approximately 10(8) cells/g feces), but may have colonized biochemically distinct sites. (b) K12 strains tested had, at most, one hundredth the colonizing ability of human fecal strains. (c) Rifampicin-resistant mutants of strains which contain one or no plasmids were poor colonizers relative to their parents. (d) Rifampicin-resistant mutants of strains which contain six or more plasmids retained the colonizing abilities of their parents. (e) Introduction of the F-amp or pJBK5 plasmid into HS-4, a human fecal strain which does not normally carry these plasmids, reduced its colonizing ability 1000-fold. (f) Strains used in this study colonized the mouse caecum and colon exclusively. The system presented here offers a simple, rapid test to determine whether a specific genetic alteration in a bacterium (e.g. antibiotic resistance) results in enhanced, reduced, or unchanged colonizing ability. Such a test might prove to be of value as a part of the clinical testing of antibiotics.

Animals↗
PubMed2001

Importance of early screening and prophylactic thyroidectomy in asymptomatic nonindex RET germline carriers.

Genetic testing for RET germline mutations affords rapid identification of germline carriers, offering the prospect of cure before C-cell hyperplasia (CCH) has progressed to medullary thyroid carcinoma (MTC). Although nonindex RET mutation carriers have a better prognosis than do the index patients, it remains to be ascertained whether age represents a risk factor for MTC when screening patients. The current institutional study (October 1994 through June 1999) was set up to compare asymptomatic nonindex patients who were grouped by age: < 20 years and > or = 20 years. Inclusion criteria were confirmed RET mutations in the germline, with no MTC being more advanced than pT1pN1M0. Adult patients (> or = 20 years) had MTC significantly more often (84% vs. 43%), significantly larger tumors (5 mm vs. 3 mm), and significantly higher basal calcitonin levels preoperatively (78.0 vs. 9.7 pg/ml) than their pediatric/adolescent counterparts (< 20 years). There was a close correlation between pT1 MTC and an elevated basal serum calcitonin level (r = 0.67; Spearman's rho). All three patients with lymph node metastases from MTC had elevated basal calcitonin levels. The two groups did not differ in terms of multifocality of MTC (pT1b), lymph node involvement (pN1) or bilateral lymph node metastasis (pN1b), or preoperative stimulated and postoperative basal and stimulated serum calcitonin. Prophylactic thyroidectomy should not be postponed beyond the age of 20, and it should be performed before basal serum calcitonin has turned positive. Pathologic conversion of stimulated serum calcitonin obviously marks the time in carriers of RET germline mutations when surgery should be scheduled at the latest to be prophylactic.

Adolescent↗
PubMed1997

Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology.

PURPOSE: The rapid growth in the use of genetic testing for heritable cancers and other diseases has led to the establishment of many committees to assess the status and future implications of such testing. The American Society of Clinical Oncology (ASCO) published a statement on genetic testing for cancer susceptibility in May 1996. In that statement, ASCO recognized the need for a major initiative to develop courses and other educational materials for ASCO members and other health care professionals that were pertinent to cancer genetics and the role of cancer predisposition testing in clinical oncology. These curriculum guidelines represent an effort to promote formal instruction on the assessment and management of familial cancer risks in training programs and continuing education courses. DESIGN AND RESULTS: An Ad hoc Task Force was created from the ASCO membership and other professional organizations. Goals of ASCO's cancer genetics education initiative, curriculum guidelines, and plans for implementation of the curriculum have been developed. To gain understanding and competency in cancer genetics and cancer predisposition testing, the curriculum emphasizes formal instruction in: (1) basic concepts and principles of genetics; (2) an understanding of the role of genetics in the etiology, diagnosis, and management of different malignancies; (3) an understanding of the ethical, legal, and social issues that surround predisposition testing; and (4) long-term management plans for individuals at high risk for cancer. This document is broad in scope and applicable to all types of malignancies. It should be considered as the framework around which cancer genetics education is developed. It is expected that implementation of training activities over the next few years will allow ASCO to fulfill its obligations to the membership. CONCLUSION: This curriculum should prove a valuable guide to those who wish further education on cancer genetics and the appropriate use of cancer predisposition testing.

Curriculum↗
PubMedDate not supplied

X-linked severe combined immunodeficiency in a family of Cardigan Welsh corgis.

Two, male, Cardigan Welsh corgi puppies, one of which was diagnosed with X-linked severe combined immunodeficiency (XSCID), are described in this report. The first puppy was euthanized before definitive immunological testing could be performed. When the second puppy was presented and the relationship between the two was discovered, immunological testing was pursued immediately due to this puppy's rapid deterioration. The immunological test results and genetic studies were compared to the XSCID basset hounds and found to be similar. By unveiling the mutation, the pedigree could be analyzed and the carrier females removed from the breeding population.

Animals↗
PubMedDate not supplied

Genetic screening: risk factors for breast cancer.

The field of cancer genetics is rapidly changing. Demand for information on genetic testing is increasing and persistent patient pressure is likely to result in increased NHS resource allocation. Cancer genetics clinics must change from small ad hoc research clinics to large throughput, patient-centred specialist services run jointly by doctors and clinical nurse specialists expert in cancer genetics and cancer medicine. We describe the development of a regional breast cancer genetics service in East Anglia based on the three-tier cancer care model outlined in the Calman report.

Breast Neoplasms↗
PubMed2003

Brown Norway rat ovalbumin-specific immunoglobulin E antibodies increase the human basophil expression of CD63 marker.

Anaphylactic shock is an immunoglobulin E (IgE)-dependent hypersensitivity. Biological tests like leucocyte histamine release (LHR) and human basophil activation (HBA), frequently used in human allergy, reflect both the amount of IgE fixed on cells and the cellular reactivity. To assess whether serum-specific IgE from Brown Norway (BN) rats prepared for ovalbumin (OVA)-induced anaphylactic shocks can activate human basophils which has a potential interest in experimental allergy: such a test could rapidly assert an IgE sensitization in laboratory animals genetically T-helper 2 (Th2)-predisposed. Rats (n = 39) were immunized three times (day 0, day 5 and day 21) with OVA injected subcutaneously. One week after the third immunization, a shock was induced with an intravenous (i.v.) bolus of OVA. Sensitization was assessed by passive cutaneous anaphylaxis (PCA) test and dosages of serum IgE antibodies anti-OVA by enzyme-linked immunosorbent assay. Blood basophils were counted before and during the shock. Before the shock induction (at day 21), an LHR test was performed on rat blood, and human basophils were sensitized with rat sera. HBA was demonstrated by the increase in the percentage of cells expressing CD63 antigen membrane, measured by flow cytometry. Twenty-one days after the first subcutaneous (s.c.) immunization, the rat serum induced a significant HBA. HBA was observed neither with the same serum previously heated nor with the serum from nonimmunized rats (NIRs). OVA-specific IgEs were significantly increased in immunized rat (IR) serum. The PCA test was negative when the serum was previously heated (56 degrees C). We never observed any circulating basophils, and LHR test was negative. After OVA i.v. administration, all IRs died rapidly. HBA testing strongly suggests a mediation by specific IgE in the increase of CD63 in BN rats. Thus, HBA test seems useful in assessing whether an experimental allergy was induced in animals genetically predisposed to an immune response, Th2-mediated, like BN rat. We also conclude that rat basophil activation does not participate in the histamine release during anaphylactic shock in sensitized BN rats.

Anaphylaxis↗
PubMedDate not supplied

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

Niemann-Pick disease type C (NPC), a neurovisceral disorder characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system, is due to mutations on either the NPC1 or the NPC2 genes. While the corresponding proteins appear essential for proper cellular cholesterol trafficking, their precise function and relationship are still unclear. Mutational analysis of patients, useful for the study of structure/function relationships, is especially valuable for proper management of affected families. Correlations have been found between genotypes and the severity of the neurological outcome of the patients, and molecular genetics constitutes the optimal approach for prenatal diagnosis. However, mutation detection in NPC disease is a challenge. The NPC1 gene, affected in >95% of the families, is large in size (approximately 50 kb), and the already known disease-causing mutations and numerous polymorphisms are scattered over 25 exons. Furthermore, detection of NPC2 patients by complex genetic complementation tests is unpractical. In the present study, we describe a rapid and reliable strategy for detecting NPC genetic variations using DHPLC analysis. Conditions of analysis were optimized for all the NPC1 and NPC2 30 exons and validated using 38 previously genotyped patients. These conditions were then applied to screen a panel of 35 genetically uncharacterized, unrelated NPC patients. Pathogenic mutations were identified in 68/70 alleles. Among the mutations identified, 29 were novel, including two of the NPC2 gene. We conclude that DHPLC is a rapid, low-cost, highly accurate, and efficient technique for the detection of NPC genetic variants.

Base Sequence↗
PubMed1998

Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests.

With the current rapid pace at which human disease genes are identified there is a need for practical, cost-efficient genetic screening tests. Two-dimensional electrophoretic separation of PCR-amplified gene fragments on the basis of size and base pair sequence, in non-denaturing and denaturing gradient polyacrylamide gels respectively, provides a rapid parallel approach to gene mutational scanning. Accuracy of the denaturing gradient gel electrophoresis (DGGE) component of this system strongly depends on the design of the PCR primers and the melting characteristics of the fragments they encompass. We have developed a fully automated generally applicable procedure to generate optimal two-dimensional test designs at a minimum amount of time and effort. Designs were generated for the RB1 , TP53 , MLH1 and BRCA1 genes that can be readily implemented in research and clinical laboratories as low cost genetic screening tests.

Adaptor Proteins, Signal Transducing↗
PubMed2003

[Genetic testing in pregnancy].

First trimester risk screening is probably the major methodological advance in identifying pregnancies at increased risk for genetic disease during recent years with an impact on all pregnancies. The high detection rate with moderate false positive rates will reduce the over-all number of invasive procedures as compared to the traditional approach based on maternal age exclusively, in particular considering the demographic shift towards higher mean maternal age. Non-invasive prenatal diagnosis from fetal cells or DNA in the maternal circulation remains an experimental approach, despite a growing number of reports on successful diagnoses of single gene disorders. In the lab molecular cytogenetic approaches have considerably broadened the diagnostic spectrum of conventional karyotyping and facilitated a rapid diagnosis of selected frequent aneuploidies. Molecular genetic testing, in particular on chorionic villi, allows an early and reliable diagnosis of a growing number of severe monogenic conditions. A restrictive legislation has hampered the development of preimplantation genetic diagnosis in German speaking countries, only a few groups work on polar body diagnosis, a legal but restricted alternative.

Adult↗
PubMed2002

[Multidisciplinary approach to genetic testing for hereditary neuromuscular diseases].

The benefit of genetic testing for hereditary neuromuscular diseases is accurate and rapid diagnosis. On the other hand, it raises several ethical, legal, and psychosocial issues because the test results may greatly influence the life plan or life style of the applicant. In particular, in case of predictive or prenatal genetic testing, or carrier detection for family relatives, careful genetic counseling and psychosocial support are needed for applicants. When requests for predictive or prenatal genetic testing, or carrier detection for healthy relatives are received, a multidisciplinary approach should be taken. A team that consists of a geneticist, neurologist, psychiatrist, psychologist, genetic nurse, and social worker should carefully conduct genetic counseling sessions. It is quite important to build effective communication and coordination of activities among the applicant, the applicant's family and members of the counseling team during pre-test counseling sessions. This will help applicants feel satisfied with their own decision as to whether they will receive genetic testing or not. Furthermore, it will help applicants cope with an unfavorable test result.

Genetic Counseling↗
PubMed1998

Genetic susceptibility testing: ethical and social quandaries.

Breast cancer in the United States continues to be a serious public health problem that affects individuals, families, and society. The simultaneous rapid progress in mapping the human genome, the advances in technology, and the subsequent commercialization of genetic testing have made it possible for women to seek breast and ovarian cancer susceptibility testing before comparable social and psychological supports are put in place. As health care places more emphasis on illness prevention and simultaneously commits less economic support for health care, genetic testing presents social and ethical challenges as well as dilemmas. The study discussed in this article consisted of intensive field observation and in-depth, face-to-face interviews concerning genetic susceptibility testing. The social worker may be in a unique position to collaborate with other health professionals in the clinical and the policy arena in regard to these tests.

Attitude to Health↗